| 1 | CMH13, TNNC1
|
| A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.
|
| Parvatiyar MS, Landstrom AP, Figueiredo-Freitas C, Potter JD, Ackerman MJ, Pinto JR.
|
| J Biol Chem 287(38):31845-55. doi: 10.1074/jbc.M112.377713.
2012
|
| 2 | CMH13, TNNC1
|
| Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
|
| Swindle N, Tikunova SB.
|
| Biochemistry 49(23):4813-20.PMID: 20459070 2010
|
| 3 | CMH13, TNN1C
|
| A dilated cardiomyopathy troponin C mutation lowers contractile force by reducing strong myosin-actin binding.
|
| Dweck D, Reynaldo DP, Pinto JR, Potter JD.
|
| J Biol Chem 285(23):17371-9. Epub 2010 Apr 6.PMID: 20371872 2010
|
| 4 | CMH13, TNNC1
|
| Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.
|
| van Spaendonck-Zwarts KY, van Tintelen JP, van Veldhuisen DJ, van der Werf R, Jongbloed JD, Paulus WJ, Dooijes D, van den Berg MP.
|
| Circulation 121(20):2169-75. Epub 2010 May 10.PMID: 20458010 2010
|
| 5 | CMH13, TNNC1
|
| A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
|
| Pinto JR, Parvatiyar MS, Jones MA, Liang J, Ackerman MJ, Potter JD.
|
| J Biol Chem 284(28):19090-100. Epub 2009 May 12. 2009
|
| 6 | CMH13, TNNC1, TNNI3
|
| Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
|
| Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H.
|
| Circ Res 105(4):375-82. Epub 2009 Jul 9. 2009
|
| 7 | CMH13, TNNC1
|
| Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
|
| Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ.
|
| J Mol Cell Cardiol 45(2):281-8. Epub 2008 May 11.PMID: 18572189 2008
|
| 8 | CMH13, TNNC1
|
| Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.
|
| Schmidtmann A, Lindow C, Villard S, Heuser A, Mugge A, Gessner R, Granier C, Jaquet K.
|
| FEBS J 272(23):6087-97. 2005
|
| 9 | CMH13, TNNC1
|
| Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development.
|
| Gomes AV, Liang J, Potter JD.
|
| J Biol Chem 280(35):30909-15. Epub 2005 Jun 15.PMID: 15961398 2005
|